Canonical Allele Identifier: CA349411340

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532021G>T , CM000664.2:g.178532021G>T GRCh38
NC_000002.11:g.179396748G>T , CM000664.1:g.179396748G>T GRCh37
NC_000002.10:g.179104994G>T NCBI36
NG_011618.3:g.303782C>A , LRG_391:g.303782C>A
NG_051363.1:g.14195G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96890C>A (TTN) ENSP00000343764.6:p.Ala32297Asp
ENST00000342175.11:c.77975C>A (TTN) ENSP00000340554.6:p.Ala25992Asp
ENST00000359218.10:c.77774C>A (TTN) ENSP00000352154.5:p.Ala25925Asp
ENST00000342175.10:c.77975C>A (TTN) ENSP00000340554.6:p.Ala25992Asp
ENST00000342992.10:c.96890C>A (TTN) ENSP00000343764.6:p.Ala32297Asp
ENST00000359218.9:c.77774C>A (TTN) ENSP00000352154.5:p.Ala25925Asp
ENST00000460472.6:c.77399C>A (TTN) ENSP00000434586.1:p.Ala25800Asp
ENST00000589042.5:c.104594C>A (TTN) MANE Select ENSP00000467141.1:p.Ala34865Asp
ENST00000591111.5:c.99671C>A (TTN) ENSP00000465570.1:p.Ala33224Asp
ENST00000615779.4:c.99671C>A (TTN) ENSP00000483597.1:p.Ala33224Asp
NM_001256850.1:c.99671C>A (TTN) NP_001243779.1:p.Ala33224Asp
NM_001267550.2:c.104594C>A (TTN) MANE Select NP_001254479.2:p.Ala34865Asp
NM_003319.4:c.77399C>A (TTN) NP_003310.4:p.Ala25800Asp
NM_133378.4:c.96890C>A (TTN) NP_596869.4:p.Ala32297Asp
NM_133432.3:c.77774C>A (TTN) NP_597676.3:p.Ala25925Asp
NM_133437.4:c.77975C>A (TTN) NP_597681.4:p.Ala25992Asp
NR_038271.1:n.446+8385G>T (TTN-AS1)
NR_038272.1:n.220-3711G>T (TTN-AS1)
XM_011511729.1:c.103691C>A (TTN) XP_011510031.1:p.Ala34564Asp
XM_011511730.1:c.77585C>A (TTN) XP_011510032.1:p.Ala25862Asp
XM_011511731.1:c.77444C>A (TTN) XP_011510033.1:p.Ala25815Asp
XM_017004819.1:c.103487C>A (TTN) XP_016860308.1:p.Ala34496Asp
XM_017004820.1:c.98885C>A (TTN) XP_016860309.1:p.Ala32962Asp
XM_017004821.1:c.98882C>A (TTN) XP_016860310.1:p.Ala32961Asp
XM_017004822.1:c.95924C>A (TTN) XP_016860311.1:p.Ala31975Asp
XM_017004823.1:c.77540C>A (TTN) XP_016860312.1:p.Ala25847Asp
XM_024453094.1:c.99035C>A (TTN) XP_024308862.1:p.Ala33012Asp
XM_024453095.1:c.99032C>A (TTN) XP_024308863.1:p.Ala33011Asp
XM_024453096.1:c.98465C>A (TTN) XP_024308864.1:p.Ala32822Asp
XM_024453097.1:c.95807C>A (TTN) XP_024308865.1:p.Ala31936Asp
XM_024453098.1:c.95726C>A (TTN) XP_024308866.1:p.Ala31909Asp
XM_024453099.1:c.77489C>A (TTN) XP_024308867.1:p.Ala25830Asp
XM_024453100.1:c.67343C>A (TTN) XP_024308868.1:p.Ala22448Asp